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Links from MedGen

Items: 36

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RAF1
(R414C +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+5 more
GUncertain significance
RAF1
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1NN
GUncertain significance
RAF1
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1NN
GUncertain significance
RAF1
(Q11K +1 more)
Single nucleotide variant
(missense variant +1 more)
LEOPARD syndrome 2
+2 more
GUncertain significance
RAF1
Single nucleotide variant
(intron variant +1 more)
Noonan syndrome 5
+2 more
GConflicting classifications of pathogenicity
RAF1
Single nucleotide variant
(5 prime UTR variant +1 more)
LEOPARD syndrome 2
+2 more
GUncertain significance
RAF1
Single nucleotide variant
(5 prime UTR variant +1 more)
Dilated cardiomyopathy 1NN
+2 more
GUncertain significance
RAF1
Single nucleotide variant
(3 prime UTR variant +1 more)
Dilated cardiomyopathy 1NN
+2 more
GUncertain significance
RAF1
(G407D +5 more)
Single nucleotide variant
(missense variant +1 more)
RASopathy
+3 more
GUncertain significance
RAF1
(H79R)
Single nucleotide variant
(missense variant +2 more)
Dilated cardiomyopathy 1NN
+1 more
GUncertain significance
RAF1
(I11F)
Single nucleotide variant
(missense variant +2 more)
Noonan syndrome
+5 more
GUncertain significance
RAF1
(K590N +5 more)
Single nucleotide variant
(missense variant +1 more)
RASopathy
+4 more
GUncertain significance
RAF1
(V263D +3 more)
Single nucleotide variant
(missense variant +1 more)
Noonan syndrome 5
+5 more
GPathogenic/Likely pathogenic
RAF1
Single nucleotide variant
(intron variant)
RASopathy
RAF1
(I201V +1 more)
Single nucleotide variant
(missense variant +2 more)
RASopathy
+5 more
GConflicting classifications of pathogenicity
RAF1
(P623S +5 more)
Single nucleotide variant
(missense variant +1 more)
LEOPARD syndrome 2
+4 more
GUncertain significance
RAF1
(S624C +5 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GConflicting classifications of pathogenicity
RAF1
(N161S +1 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+5 more
GUncertain significance
RAF1
Single nucleotide variant
(5 prime UTR variant +1 more)
Dilated cardiomyopathy 1NN
+2 more
GUncertain significance
RAF1
(G169R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GPathogenic/Likely pathogenic
RAF1
(F146L +1 more)
Single nucleotide variant
(missense variant +1 more)
RASopathy
+5 more
GUncertain significance
RAF1
(R627Q +5 more)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1NN
+2 more
GUncertain significance
RAF1
(S605F +5 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+6 more
GUncertain significance
RAF1
Single nucleotide variant
(synonymous variant +1 more)
RASopathy
RAF1
Single nucleotide variant
(5 prime UTR variant +1 more)
LEOPARD syndrome 2
+2 more
GUncertain significance
RAF1
(A237T +3 more)
Single nucleotide variant
(missense variant +1 more)
Noonan syndrome 5
+2 more
GConflicting classifications of pathogenicity
RAF1
(T641M +5 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GConflicting classifications of pathogenicity
RAF1
(L603P +5 more)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1NN
GPathogenic
RAF1
(P261L +3 more)
Single nucleotide variant
(missense variant +1 more)
Noonan syndrome
+4 more
GPathogenic/Likely pathogenic
RAF1
Single nucleotide variant
(synonymous variant +1 more)
RASopathy
+6 more
GLikely benign
RAF1
(F475L +5 more)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1NN
+4 more
GPathogenic/Likely pathogenic
RAF1
(R398L +5 more)
Single nucleotide variant
(missense variant +1 more)
RASopathy
GUncertain significanceFDA Recognized
database
RAF1
(P261A +3 more)
Single nucleotide variant
(missense variant +1 more)
Primary familial hypertrophic cardiomyopathy
+6 more
GPathogenic/Likely pathogenic
RAF1
Single nucleotide variant
(5 prime UTR variant +1 more)
RASopathy
RAF1
Microsatellite
RASopathy
RAF1
(S257L +3 more)
Single nucleotide variant
(missense variant +1 more)
Noonan syndrome
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